Canonical Allele Identifier: CA004485

Gene: TNNT2

Linked Data

• ClinVar Variation Id: 127070
• ClinVar RCV Id: RCV001364049 ; RCV001526238 ; RCV002223788 ; RCV002371942 ; RCV003227640
• dbSNP Id: rs45525839
• gnomAD v2: 1-201333485-G-A
• gnomAD v3: 1-201364357-G-A
• gnomAD v4: 1-201364357-G-A
• MyVariant Identifiers: chr1:g.201333485G>A (hg19) ; chr1:g.201364357G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201364357G>A , CM000663.2:g.201364357G>A	GRCh38
NC_000001.10:g.201333485G>A , CM000663.1:g.201333485G>A	GRCh37
NC_000001.9:g.199600108G>A	NCBI36
NG_007556.1:g.18321C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000455702.7:c.415C>T	ENSP00000402238.3:p.Arg139Trp
ENST00000367318.10:c.400C>T	ENSP00000356287.5:p.Arg134Trp
ENST00000367322.6:c.397C>T	ENSP00000356291.2:p.Arg133Trp
ENST00000412633.3:c.400C>T	ENSP00000408731.2:p.Arg134Trp
ENST00000422165.6:c.430C>T	ENSP00000395163.2:p.Arg144Trp
ENST00000438742.6:c.382C>T	ENSP00000414036.2:p.Arg128Trp
ENST00000455702.6:c.415C>T	ENSP00000402238.2:p.Arg139Trp
ENST00000651504.1:n.894C>T
ENST00000656932.1:c.430C>T MANE Select	ENSP00000499593.1:p.Arg144Trp
ENST00000658476.1:c.400C>T	ENSP00000499741.1:p.Arg134Trp
ENST00000660295.1:c.400C>T	ENSP00000499418.1:p.Arg134Trp
ENST00000662159.1:c.163-2358C>T	ENSP00000499796.1:n.163-2358C>T
ENST00000663843.1:c.*330C>T	ENSP00000499590.1:n.*330C>T
ENST00000666449.1:c.400C>T	ENSP00000499667.1:p.Arg134Trp
ENST00000236918.11:c.430C>T	ENSP00000236918.8:p.Arg144Trp
ENST00000360372.8:c.310C>T	ENSP00000353535.5:p.Arg104Trp
ENST00000367315.6:c.406C>T	ENSP00000356284.3:p.Arg136Trp
ENST00000367317.8:c.385C>T	ENSP00000356286.5:p.Arg129Trp
ENST00000367318.9:c.400C>T	ENSP00000356287.5:p.Arg134Trp
ENST00000367320.6:c.310C>T	ENSP00000356289.2:p.Arg104Trp
ENST00000367322.5:c.400C>T	ENSP00000356291.1:p.Arg134Trp
ENST00000421663.6:c.223C>T	ENSP00000404134.3:p.Arg75Trp
ENST00000438742.5:c.385C>T	ENSP00000414036.1:p.Arg129Trp
ENST00000455702.5:c.430C>T	ENSP00000402238.1:p.Arg144Trp
ENST00000458432.6:c.223C>T	ENSP00000387874.3:p.Arg75Trp
ENST00000466570.5:n.656C>T
ENST00000491504.5:n.1639C>T
ENST00000503459.1:n.269C>T
ENST00000509001.5:c.400C>T	ENSP00000422031.1:p.Arg134Trp
ENST00000515042.5:n.326C>T
NM_000364.3:c.430C>T	NP_000355.2:p.Arg144Trp
NM_001001430.2:c.400C>T	NP_001001430.1:p.Arg134Trp
NM_001001431.2:c.400C>T	NP_001001431.1:p.Arg134Trp
NM_001001432.2:c.385C>T	NP_001001432.1:p.Arg129Trp
NM_001276345.1:c.430C>T	NP_001263274.1:p.Arg144Trp
NM_001276346.1:c.310C>T	NP_001263275.1:p.Arg104Trp
NM_001276347.1:c.400C>T	NP_001263276.1:p.Arg134Trp
XM_006711508.2:c.400C>T	XP_006711571.1:p.Arg134Trp
XM_006711509.2:c.397C>T	XP_006711572.1:p.Arg133Trp
XM_011509938.1:c.430C>T	XP_011508240.1:p.Arg144Trp
XM_011509939.1:c.427C>T	XP_011508241.1:p.Arg143Trp
XM_011509940.1:c.430C>T	XP_011508242.1:p.Arg144Trp
XM_011509941.1:c.427C>T	XP_011508243.1:p.Arg143Trp
XM_011509942.1:c.385C>T	XP_011508244.1:p.Arg129Trp
XM_011509943.1:c.385C>T	XP_011508245.1:p.Arg129Trp
XM_011509944.1:c.382C>T	XP_011508246.1:p.Arg128Trp
XM_011509945.1:c.430C>T	XP_011508247.1:p.Arg144Trp
XM_011509946.1:c.223C>T	XP_011508248.1:p.Arg75Trp
XM_006711508.3:c.400C>T	XP_006711571.1:p.Arg134Trp
XM_006711509.3:c.397C>T	XP_006711572.1:p.Arg133Trp
XM_011509938.2:c.430C>T	XP_011508240.1:p.Arg144Trp
XM_011509940.2:c.430C>T	XP_011508242.1:p.Arg144Trp
XM_011509941.2:c.427C>T	XP_011508243.1:p.Arg143Trp
XM_011509942.2:c.385C>T	XP_011508244.1:p.Arg129Trp
XM_011509943.2:c.385C>T	XP_011508245.1:p.Arg129Trp
XM_011509944.2:c.382C>T	XP_011508246.1:p.Arg128Trp
XM_017002216.2:c.400C>T	XP_016857705.1:p.Arg134Trp
XM_017002217.1:c.400C>T	XP_016857706.1:p.Arg134Trp
XM_024449450.1:c.430C>T	XP_024305218.1:p.Arg144Trp
XM_024449454.1:c.397C>T	XP_024305222.1:p.Arg133Trp
XM_024449455.1:c.400C>T	XP_024305223.1:p.Arg134Trp
NM_000364.4:c.430C>T	NP_000355.2:p.Arg144Trp
NM_001001430.3:c.400C>T	NP_001001430.1:p.Arg134Trp
NM_001001431.3:c.400C>T	NP_001001431.1:p.Arg134Trp
NM_001001432.3:c.385C>T	NP_001001432.1:p.Arg129Trp
NM_001276345.2:c.430C>T MANE Select	NP_001263274.1:p.Arg144Trp
NM_001276346.2:c.310C>T	NP_001263275.1:p.Arg104Trp
NM_001276347.2:c.400C>T	NP_001263276.1:p.Arg134Trp